DOLPP1

dolichyldiphosphatase 1
OMIM: 614516, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red DOLPP1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)